Results 81 to 90 of about 8,766 (203)

Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox‐inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) and an NAD(P)HX epimerase (NAXE).
Myrto Patraskaki, Najmesadat Seyedkatouli, Lisa Schlicker, Marc O. Warmoes, Maria Lorena Cordero‐Maldonado, Ursula Heins‐Marroquin, Carole L. Linster   +6 more
wiley   +1 more source

Síndrome Hemolítico Urémico Atípico en Cuidados Intensivos: Caso Clínico de un Adulto [PDF]

, 2016
info:eu-repo/semantics ...
Agudo, I, Azevedo, L, Bento, L, Cavaco, R, Germano, N, Souto-Moura, T   +5 more
core   +1 more source

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non‐consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome
Ilia Spivak, Daniella Magen, Karin Weiss, Tamar Paperna, Suhair Hanna, Amos Etzioni, Adi Miller‐Barmak, Yonatan Butbul Aviel   +7 more
wiley   +1 more source

Anti-ADAMTS13 Autoantibodies in Immune-Mediated Thrombotic Thrombocytopenic Purpura

Antibodies
Autoantibodies to ADAMTS13 are at the center of pathology of the immune-mediated thrombotic thrombocytopenic purpura. These autoantibodies can be either inhibitory (enzymatic function) or non-inhibitory, resulting in protein depletion.
Michael R. Snyder, Robert W. Maitta
doaj   +1 more source

Cleavage of von Willebrand factor by granzyme M destroys its factor VIII binding capacity. [PDF]

PLoS ONE, 2011
Von Willebrand factor (VWF) is a pro-hemostatic multimeric plasma protein that promotes platelet aggregation and stabilizes coagulation factor VIII (FVIII) in plasma.
Martine J Hollestelle, Ka Wai Lai, Marcel van Deuren, Peter J Lenting, Philip G de Groot, Tom Sprong, Niels Bovenschen   +6 more
doaj   +1 more source

A case of refractory thrombotic thrombocytopenic purpura treated with plasmapheresis and rituximab [PDF]

, 2016
Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening disorder with no prevalence or incidence studies in sub-Saharan Africa. Acquired TTP has several causes, all of which lead to decreased activity of von Willebrand factor cleaving ...
Kirui, Nicholas, Sokwala, Ahmed
core   +4 more sources

Plasma von Willebrand factor levels predict in-hospital survival in patients with acute-on-chronic liver failure [PDF]

, 2016
BACKGROUND AND AIMS: Circulating levels of von Willebrand factor (vWF) predict mortality in patients with cirrhosis. We hypothesized that systemic inflammation in acute-on-chronic liver failure (ACLF) will stimulate endothelium, increase vWF levels, and ...
Amirtharaj, GJ, Balasubramanian, KA, Eapen, CE, Elias, E, Goel, A, Mackie, I, Prasanna, KS, Ramachandran, A, Sajith, KG, Zachariah, U   +9 more
core   +1 more source

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen, Zhang Duo, Hao Wenjing, Hou Hui   +3 more
wiley   +1 more source

ADAMTS13 regulates angiogenic markers via Ephrin/Eph signaling in human mesenchymal stem cells under serum-deprivation stress

Scientific Reports
Mesenchymal stem cells (MSCs) are known to facilitate angiogenesis and promote neo-vascularization via secretion of trophic factors. Here, we explored the molecular mechanism adopted by ADAMTS13 in modulating the expression of some key angiogenic markers
Srishti Dutta Gupta, Malancha Ta
doaj   +1 more source

Long‐Term Biobanked Dental Pulp Stem Cells Retain Angiogenic Potential for Vascularised Tissue Engineering—Laboratory Investigation

International Endodontic Journal, Volume 59, Issue 1, Page 105-118, January 2026.
ABSTRACT Aim This study aimed to evaluate whether human dental pulp stem cells (DPSCs), after long‐term biobanking (7–8 years), retain their pro‐angiogenic properties and can be used to engineer vascularised tissues, addressing their potential for clinical translation in regenerative dentistry.
Shuntaro Yamada, Katerina Holomkova, Åshild Johansen, Masoumeh Jahani Kadousaraei, Niyaz Al‐Sharabi, Francesco Torelli, Pierfrancesco Pagella, Ana Angelova Volponi, Hiroshi Egusa, Inge Fristad, Kamal Mustafa   +10 more
wiley   +1 more source